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missense variant
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MUDr. Jaroslav Kotlas
Academic staff at First Faculty of Medicine
37 publications
Publications
publication
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer
2019 |
First Faculty of Medicine
publication
Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance
2019 |
First Faculty of Medicine
publication
Diagnostic methods in cardiovascular diseases
2021 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
publication
Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers
2019 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene
2019 |
First Faculty of Medicine
publication
Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic
2019 |
First Faculty of Medicine
publication
Bowel diseases
2018 |
First Faculty of Medicine, Third Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Pilsen, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report
2018 |
First Faculty of Medicine
publication
GRN mutation in a patient with a behavioral variant of frontotemporal lobar degeneration (bvFTD)
2017 |
Publication without faculty affiliation
publication
Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele
2013 |
First Faculty of Medicine
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